ライフサイエンスコーパス: heteroplasmy

1 gation of the mutated and wild-type genomes (heteroplasmy).

2 ations coexist with wild-type genomes (mtDNA heteroplasmy).

3 tDNAs often co-exist in the same cell (mtDNA heteroplasmy).

4 tant and wild-type alleles within each cell (heteroplasmy).

5 eal the unexpectedly dynamic nature of human heteroplasmy.

6 well correlated with independent measures of heteroplasmy.

7 egion had nucleotide heteroplasmy and length heteroplasmy.

8 sequenced for nucleotide variants and length heteroplasmy.

9 ations have largely been attributed to mtDNA heteroplasmy.

10 tain the wild-type mtDNA, a condition called heteroplasmy.

11 mutant mtDNA can co-exist in a state called heteroplasmy.

12 e mitochondrial genome, a condition known as heteroplasmy.

13 e accumulation of mtDNA length variation and heteroplasmy.

14 cantly higher levels of length variation and heteroplasmy.

15 7C, T146C, and T195C, at levels up to 70-80% heteroplasmy.

16 d subpopulation of mtDNA, a situation termed heteroplasmy.

17 tion of mitochondrial DNA mutations with low heteroplasmy.

18 donor and recipient cytoplasms, resulting in heteroplasmy.

19 o the evolutionary dynamics of mitochondrial heteroplasmy.

20 anelle gene diversity and the maintenance of heteroplasmy.

21 ame cell-a phenomenon known as intracellular heteroplasmy.

22 ach pair, both members had similar levels of heteroplasmy.

23 e frequencies of mitochondrial genotypes and heteroplasmy.

24 t and wild-type mtDNAs coexist, resulting in heteroplasmy.

25 wild-type mtDNA, a situation known as mtDNA heteroplasmy.

26 sts with wild-type mtDNA, resulting in mtDNA heteroplasmy.

27 ally derived copies of the genome; a type of heteroplasmy.

28 e similar characteristics as found for human heteroplasmies.

29 to recognize and select against deleterious heteroplasmies.

30 id, directional, and complete shift in mtDNA heteroplasmy (2-6 h).

31 For deleterious heteroplasmies, a severe bottleneck may abruptly transfo

32 The difference in the frequency of heteroplasmy across different age groups was statistical

33 Cumulatively, mitochondrial heteroplasmy across the genome increased significantly w

34 e cellular pathology at high levels of mtDNA heteroplasmy, an mtDNA deletion must accumulate to level

35 luation data shows that mtDNA-Server detects heteroplasmies and artificial recombinations down to the

36 e of droplet digital PCR (ddPCR) to validate heteroplasmies and confirm a de novo mutation.

37 nd segregation that underlie cellular/tissue heteroplasmy and clinical variability.

38 We validated the underlying heteroplasmy and contamination detection model by genera

39 l impact to ongoing studies of mitochondrial heteroplasmy and disease.

40 The noncoding MT-Dloop region had nucleotide heteroplasmy and length heteroplasmy.

41 This result, together with an absence of heteroplasmy and length variation in Gulf sturgeon mtDNA

42 es present in individual samples result from heteroplasmy and not from contamination.

43 results shed new light on the maintenance of heteroplasmy and provide a novel platform to investigate

44 standing of mitochondrial DNA control region heteroplasmy and provide additional empirical informatio

45 Heteroplasmy and recombination between divergent haploty

46 phisms have suggested a relationship between heteroplasmy and somatic aging.

47 Based on the presence of heteroplasmy and the recessive nature of these mutations

48 To broadly explore the variation of human heteroplasmy and to clarify the dynamics of somatic hete

49 f mutant and wild-type mtDNA (a state termed heteroplasmy), and the clinical features of the disease

50 s along with wild-type genomes in a state of heteroplasmy, and are a cause of severe inherited syndro

51 On average, each individual carried one heteroplasmy, and one in eight individuals carried a dis

52 These novel heteroplasmies are enhanced for tRNA and rRNA genes, and

53 Changing levels of mtDNA heteroplasmy are fundamentally related to the pathophysi

54 explained = 0.48%) suggesting site-specific heteroplasmy as a possible link between stress and incre

55 ay help understand the mechanisms generating heteroplasmy as well as its effects on plant phenotypes.

56 ence reads to identify sequence variants and heteroplasmy, as well as de novo sequence assembly.

57 tance that are suggestive of more widespread heteroplasmy at both atpA and cox1.

58 s sufficiently high that there is persistent heteroplasmy at nt 16192 in maternal lineages and at the

59 ency of occurrence, and degree of associated heteroplasmy, but each includes the control region and o

60 Using Mseek, we confirmed the ubiquity of heteroplasmy by analyzing mtDNA from a diverse set of ce

61 drial genome is possible, even low levels of heteroplasmy can affect the stability of the mtDNA genot

62 This confirms that some mtDNA heteroplasmy can exist in human neurons, and provides th

63 lations show that the level of intracellular heteroplasmy can vary greatly over a short period of tim

64 here co-existing mutant and wild-type mtDNA (heteroplasmy) can be distinguished using restriction dig

65 The assay is not hindered by length heteroplasmy, can directly analyze template mixtures, an

66 Polyplasmy and heteroplasmy contribute to mitochondrial phenotypes and

67 s/cybrid cell, and the average percentage of heteroplasmy correlated well with the bulk cell sample.

68 We hypothesized that the stability of heteroplasmy could be facilitated by intercellular excha

69 P-seq data, the results of our mitochondrial heteroplasmy detection method suggest that mitochondrial

70 r workflow includes parallel read alignment, heteroplasmy detection, artefact or contamination identi

71 NA in ChIP-seq experiments is sufficient for heteroplasmy detection.

72 However, for some sites, observations of heteroplasmy did not mirror established mutation rate da

73 The frequency of heteroplasmy differed across tissue types, being higher

74 y, these data indicate that the frequency of heteroplasmy differs between particular populations, per

75 Previously, our understanding of the heteroplasmy distribution has been limited to just the m

76 on random genetic drift, for the full mtDNA heteroplasmy distribution.

77 ng near-complete directional shifts of mtDNA heteroplasmy, either by iterative treatment or through f

78 ers and homoplasmic fathers showed that once heteroplasmy enters a maternal lineage it is retained by

79 While several pipelines for analyzing heteroplasmies exist, issues in usability, accuracy of r

80 oss individuals supports the hypothesis that heteroplasmy facilitates formation of novel mitochondria

81 It will further consider how this heteroplasmy facilitates recombination between genetical

82 ixation of heteroplasmic mtDNA, do levels of heteroplasmy fluctuate during life, is it possible to mo

83 We show incidences of heteroplasmy for mitochondrial atpA and patterns of inhe

84 We observed frequent drastic heteroplasmy frequency shifts between generations and es

85 nts, we developed a novel approach to detect heteroplasmy from the concomitant mitochondrial DNA frac

86 Dramatic tissue variation in mitochondrial heteroplasmy has been found to exist in patients with sp

87 The demonstration of universal mtDNA heteroplasmy has fundamental implications for our unders

88 development and maintenance of mitochondrial heteroplasmy has important consequences for both health

89 ioecious plant Plantago lanceolata, in which heteroplasmy has not previously been reported, and estim

90 Sharpley et al. show that heteroplasmy has surprising genetic and behavioral effec

91 hondrial DNA (mtDNA) characteristics such as heteroplasmy (i.e. intra-individual sequence variation)

92 detection method suggest that mitochondrial heteroplasmies identified across vertebrates share simil

93 nto the architecture of the cfDNA, and mtDNA heteroplasmy identified in plasma provides new potential

94 a positive association between the number of heteroplasmies in a child and maternal age at fertilizat

95 ncy (MAF) threshold of 2%, we identified 189 heteroplasmies in the trio mothers, of which 59% were tr

96 h 59% were transmitted to offspring, and 159 heteroplasmies in the trio offspring, of which 70% were

97 ce for rare chloroplast paternal leakage and heteroplasmy in 1.86% of the offspring.

98 in 180 twin pairs and found evidence of site heteroplasmy in 4 pairs.

99 nvincingly documented cases of mitochondrial heteroplasmy in a small set of wild and cultivated plant

100 is highlighted by a progressive increase in heteroplasmy in a stem cell line derived from a PNT blas

101 al genes and within atp1, implying transient heteroplasmy in ancestral lineages.

102 Tissue levels of T8993C mutant heteroplasmy in blood and hair follicles were quantified

103 The degree of heteroplasmy in blood correlated well with the severity

104 tDNA deletions and investigating the role of heteroplasmy in cell-to-cell heterogeneity in cellular m

105 positions (nps) exhibit high frequencies of heteroplasmy in different tissues, and, moreover, hetero

106 different percentage levels of mutant mtDNA heteroplasmy in different tissues, but the factors influ

107 While the importance of mitochodrial heteroplasmy in human disease is unquestioned, we remain

108 Heteroplasmy in human mtDNA may play a role in cancer, o

109 ion was used to investigate the frequency of heteroplasmy in human mtDNA.

110 This study indicates that low-level heteroplasmy in HV1 is relatively common and that it occ

111 The single-cell analysis also revealed that heteroplasmy in individual cells is highly heterogeneous

112 Heteroplasmy in L2 was associated with a small variable

113 be an integrated cross-species evaluation of heteroplasmy in mammals that exploits previously reporte

114 on, which was present at very high levels of heteroplasmy in muscle (84%) and lower levels in blood (

115 We observed a significant shift in mtDNA heteroplasmy in muscle and brain transduced with recombi

116 a novel platform to investigate features of heteroplasmy in normal and diseased states.

117 pulations, to estimate the frequency of site heteroplasmy in normal human populations.

118 discussed with regard to previous studies of heteroplasmy in open-pollinated natural populations of S

119 We then detected mtDNA heteroplasmy in plasma from 3 patients.

120 s, and studied the dynamics of intracellular heteroplasmy in postmitotic cells.

121 hose of other recent reports indicating that heteroplasmy in the control region is more common than w

122 A population study of heteroplasmy in the hypervariable region 1 (HV1) portion

123 Instances of point and length heteroplasmy in the mitochondrial DNA control region wer

124 Persistent heteroplasmy in the presence of antibiotics indicated th

125 We identify increased rates of heteroplasmy in women with MDD, and show from an experim

126 selection during transmission against novel heteroplasmies (in which the minor allele has never been

127 and the ratio of mutant to wild-type mtDNA (heteroplasmy) in each cell and tissue.

128 ogeneous, we found widespread heterogeneity (heteroplasmy) in the mtDNA of normal human cells.

129 drial DNA (mtDNA) often exists in a state of heteroplasmy, in which mutant mtDNA co-exists in cells w

130 atistically significant, which suggests that heteroplasmy increases with age.

131 we show that, even though the low levels of heteroplasmy introduced into human oocytes by mitochondr

132 highly significant excess of liver-specific heteroplasmies involving nonsynonymous changes, most of

133 Heteroplasmy is a state in which more than one genome ty

134 We conclude that the observed heteroplasmy is an artifact.

135 The level of heteroplasmy is highly correlated with the number of yea

136 The role of mitochondrial heteroplasmy is of particular interest in plants as cyto

137 in the female germ line; despite this, mtDNA heteroplasmy is remarkably common.

138 colonies derived from single cells, we find heteroplasmy is stably maintained in individual daughter

139 oplasmy in different tissues, and, moreover, heteroplasmy is strongly dependent on the specific conse

140 Heteroplasmy is suspected to be common in flowering plan

141 Reducing heteroplasmy is therefore a therapeutic goal and in vivo

142 NA) coexisting within the same cell (a.k.a., heteroplasmy) is important in mitochondrial disease and

143 Mixing of mitochondrial DNAs (heteroplasmy) is unfavorable for reasons unknown.

144 rnally, and there are large random shifts in heteroplasmy level between mother and offspring.

145 ides into human mitochondria and thus impact heteroplasmy level in cells bearing a large deletion in

146 with the size of the deletion, the deletion heteroplasmy level in skeletal muscle, and the location

147 1), whereas no correlation was observed with heteroplasmy level or overall disease involvement.

148 amount of mutant mtDNA in a cell, called the heteroplasmy level, is an important factor in determinin

149 Understanding the distribution in heteroplasmy levels across a group of offspring is an im

150 Near-identical heteroplasmy levels in different tissues in both sibling

151 Heteroplasmy levels of the m.3243A>G mutation were measu

152 d deletions such as the "common deletion" at heteroplasmy levels well below 1%.

153 A comparison of age-corrected blood heteroplasmy levels with skeletal muscle, an embryologic

154 tecting large mitochondrial deletions at low heteroplasmy levels.

155 n the oocyte is the major determinant of the heteroplasmy MAF in the offspring.

156 ites than DZ twin pairs, suggesting that the heteroplasmy MAF in the oocyte is the major determinant

157 mtZFN-based approaches offer means for mtDNA heteroplasmy manipulation in basic research, and may pro

158 Heteroplasmy might be achieved by one of two potential m

159 Since heteroplasmy might be difficult to detect should multipl

160 In certain circumstances heteroplasmy might be regulated at the level of the indi

161 se studies of Silene vulgaris suggested that heteroplasmy might occur in this species at a level that

162 tistically significant higher levels of D310 heteroplasmy (more than one length variant) in the lymph

163 lysis revealed that the majority of detected heteroplasmies occur in intergenic regions.

164 Although heteroplasmy occurred at a total of 16 different positio

165 nfluences patterns of gene flow, and whether heteroplasmy occurs in natural populations at a frequenc

166 with mismatched primers was employed to show heteroplasmy of a novel 12SrRNA mutation in the proband

167 aplotype sample, implying at least transient heteroplasmy of mitochondrial DNA (mtDNA).

168 , we generated mice containing an admixture (heteroplasmy) of NZB and 129S6 mtDNAs in the presence of

169 impact of mitochondrial paternal leakage and heteroplasmy on both the evolution of the mitochondrial

170 Low-frequency mutations, heteroplasmies, or SNPs scattered throughout the DNA in

171 lasmy and to clarify the dynamics of somatic heteroplasmy over the course of lifespan, we analyzed mi

172 from human data to correct for the change in heteroplasmy over time.

173 For the other two patients, the heteroplasmy pattern is also different between plasma an

174 Heteroplasmy ranged from 15% to 63%.

175 pies of deleted mtDNA, and the percentage of heteroplasmy ranged from 43+/-16 to 95+/-16%.

176 Because of unique features such as heteroplasmy, replicative segregation, and threshold eff

177 , is responsible for the different levels of heteroplasmy seen in the offspring of heteroplasmic fema

178 Rapid shifts in the level of heteroplasmy seen within a single generation contribute

179 emove mutated mtDNA through the induction of heteroplasmy shift in oocytes and zygotes.

180 of mitochondrial diseases by inducing mtDNA heteroplasmy shift through the selective elimination of

181 l of these tissue-related and allele-related heteroplasmies show a significant age-related accumulati

182 ative mitochondrial copy numbers and detects heteroplasmy, somatic mutation and structural variants o

183 random drift process underlying the shifting heteroplasmy, some reports describe differences in segre

184 nifestations vary based on mutation type and heteroplasmy (that is, the relative levels of mutant and

185 (mtDNA) diseases depends on the frequency of heteroplasmy (the presence of several alleles in an indi

186 It is increasingly appreciated that heteroplasmy, the occurrence of multiple mtDNA haplotype

187 Mitochondrial heteroplasmy, the presence of more than one mitochondria

188 Heteroplasmy, the presence of more than one type of mtDN

189 As a test for contamination and to confirm heteroplasmy, the samples were sequenced for the HVI reg

190 ith mitochondrial DNA (mtDNA) mutations, but heteroplasmy-the coexistence of mutant and wild-type mtD

191 In addition, in the presence of heteroplasmy there is a threshold whereby a certain leve

192 Significant regressions of heteroplasmy, theta and pi, on repeat number further sug

193 ntal inheritance resulting in a low level of heteroplasmy) to 100% in others.

194 Here we present a high-resolution study of heteroplasmy transmission conducted on blood and buccal

195 Here, we analyze the dynamics of mtDNA heteroplasmy transmission in the Genomes of the Netherla

196 ing a mixture of mutant and wild-type mtDNA (heteroplasmy) transmit a varying proportion of mutant mt

197 We propose that in the context of mtDNA heteroplasmy, UPR(mt) activation caused by OXPHOS defect

198 n experimental and computational research on heteroplasmy variance in different species.

199 , other diseases, and aging, but patterns of heteroplasmy variation across different tissues have not

200 t with earlier studies, but a higher rate of heteroplasmy varying between 10% and 50%.

201 The frequency of heteroplasmy was 5 of 43 individuals, or 11.6%.

202 Length heteroplasmy was also observed in the AC dinucleotide re

203 An initial search for heteroplasmy was conducted by use of the SSO probe syste

204 Point heteroplasmy was detected in approximately 6% of all sam

205 Evidence for heteroplasmy was found in 23 of the 99 individuals studi

206 As expected, length heteroplasmy was frequently observed in the HVI, HVII an

207 examining mother-child pairs, we found that heteroplasmy was inherited (30%) but could occur de novo

208 In general, the sites at which heteroplasmy was most commonly observed correlated with

209 Heteroplasmy was observed in 35 individuals (13.8%; 95%

210 Heteroplasmy was quantitated in individual cytoplasmic h

211 Accounting for heteroplasmies, we estimated the mtDNA germ-line mutatio

212 context and to explore general principles of heteroplasmy, we describe an integrated cross-species ev

213 To understand the nature of heteroplasmy, we developed Mseek, a novel technique to p

214 Significant levels of heteroplasmy were identified at 0.24% of sites evaluated

215 Surprisingly, changes in heteroplasmy were not uniform with some sites demonstrat

216 c proportions as low as 1% and virtually all heteroplasmy where the minor component is > or = 5%.

217 l detection method for accurate detection of heteroplasmies, which also accounts for the error rate o

218 omic configurations that contribute to mtDNA heteroplasmy, which drives rapid evolution of the sequen

219 We identified 4,577 heteroplasmies (with an alternative allele frequency of

220 chondrial PstI caused a significant shift in heteroplasmy, with an accumulation of the mtDNA haplotyp

221 ght individuals carried a disease-associated heteroplasmy, with minor allele frequency >/=1%.

222 The evolution of heteroplasmy within a generation was studied in samples

223 fter mating, and temperature on evolution of heteroplasmy within and between generations.

224 ure of mutated and wild type genomes (termed heteroplasmy) within individual cells.

225 currently available, the ability to modulate heteroplasmy would have a major impact in the phenotype